tbuckley/cabot-search huggingface dataset:
BH13 Is this dissecting cellulitis of the scalp in a White child?
Authors: Farishta Khan, Chenjing Peng
Journal: British Journal of Dermatology (2023)

Abstract Dissecting cellulitis of the scalp (DCS) is characterized by recurrent pustules and sinus tract formation leading to scarring and alopecia. Follicular obstruction is a key pathogenic event and is associated with hidradenitis suppurativa and acne conglobate. Commonly, DCS is found in adult men of Afro-Caribbean descent (Arneja J, Vashi C, Gursel E, Lelli J. Management of fulminant dissecting cellulitis of the scalp in the pediatric population: case report and literature review. Can J Plast Surg 2007; 15:211–14). We describe a rare case of a White child who presented with features suggestive of DCS. An 11-year-old boy was referred with a 2-year history of patches of alopecia affecting the occipital scalp which was initially treated as tinea capitis with antifungal creams, but this was ineffective. On examination, there was diffuse, boggy subcutaneous swelling with scarring, overlying erythema and patches of alopecia on the occipital scalp. A course of erythromycin and oral terbinafine showed a partial response of the affected areas, although subsequent new patches of alopecia were noted with a similar manifestation of bogginess and overlying erythema. Systemic examination, blood tests and skin scrapings were unremarkable. While continuing erythromycin, he was counselled for isotretinoin and a referral to a tertiary centre has been made to guide further management. Paediatric scarring alopecia encompasses congenital and acquired causes (Imhof R, Cantwell H, Proffer S et al. The spectrum of pediatric scarring alopecia: a retrospective review of 27 patients seen at Mayo Clinic. Pediatr Dermatol 2021; 38:580–4). The differential diagnosis for our patient included tinea capitis causing irreversible alopecia, and being aware of this phenomenon with late presentations and delayed treatment is vital. Other differentials are discoid lupus and cutaneous morphoea. However, the clinical features in this case are more in keeping with DCS, which is scarcely reported in the paediatric literature. Histological confirmation is not always practical with children, and follow-up to assess course of the disease is prudent. Importantly, the discussion of permanent hair loss with a child and parent remains challenging, and clinicians should be aware of the associated psychosocial impact.
RF03 Lentigo maligna 2013–2019 in England: incidence and survival of 18,377 cases
Authors: Dimitrios Karponis, Khaylen Mistry, Birgitta van Bodegraven, Nicholas J Levell, Zoe Venables
Journal: British Journal of Dermatology (2023)

Abstract Lentigo maligna (LM) is a common melanoma in situ with limited national epidemiological data. National data on LM incidence, age groups and 5-year survival in England from 2013 to 2019 were explored using report-level data published openly on the ‘Get Data Out’ National Disease Registration Service (NDRS) programme. In total, 18 377 new cases (49% male, 51% female) of LM were registered in England, with a mean of 2625 new diagnoses per year. The crude incidence rate of LM increased from 4.33/100 000 [95% confidence interval (CI) 4.16–4.51] in 2013 to 4.69/100 000 (95% CI 4.52–4.87) in 2019. The average crude incidence rate of LM per year was 23.4/100 000 [95% CI 22.7–24.9; 35.2 male (95% CI 33.2–37.4), 15.4 female (95% CI 15.2–17.5)] in those aged &amp;gt; 80 years vs. 0.59/100 000 [95% CI 0.55–0.62; 0.65 male (95% CI 0.59–0.71), 0.53 female (95% CI 0.47–0.59)] in those aged &amp;lt; 60 years. Overall, 5-year Kaplan–Meier survival was 83.1% (95% CI 81.5–84.6) for LM diagnosed in 2013, while 5-year overall net survival was 103.7% (95% CI 101.2–106.2) in 2014. By comparison, for invasive melanoma, 5-year overall Kaplan–Meier survival was 79.1% (95% CI 78.3–79.8) and 5-year overall net survival was 88.6% (95% CI 87.6–89.6) for 2013 diagnoses. Important limitations are that registered LM is based on histopathological data or multidisciplinary team discussions; hence, LM treated topically without biopsy or untreated LM were not included. Privately treated patients were also under-represented, as there was no requirement for private laboratory data to be submitted to NDRS, unlike data from National Health Service laboratories. The apparent 5-year LM-specific survival advantage is likely due to fewer frail patients seeking medical attention, being referred or undergoing histological confirmation. We report the largest series of data on LM in Europe to date. The observed increase in the incidence of LM and its excellent 5-year net survival supports further discussion on current clinical practice and treatment options.
BH05 Successful treatment of acrodermatitis continua of Hallopeau with methotrexate
Authors: Laksha Bala, Khawar Hussain, Derrick Phillips
Journal: British Journal of Dermatology (2023)

Abstract A 39-year-old woman was referred with a 3-month history of brittle nails, painful fingertips and psoriasiform plaques affecting her torso and limbs. She had a past medical history of macrocytic anaemia secondary to dietary B12 and folate deficiencies, which required inpatient transfusions. She had no previous dermatological concerns, and there was no history of infection or trauma to the affected sites. On examination of her hands and feet, there was evidence of nailbed pustulation, subungual hyperkeratosis, onychodystrophy, anonychia of multiple nails and dactylitis, consistent with acrodermatitis continua of Hallopeau (ACH) with associated psoriasis. At diagnosis, the patient’s Dermatology Life Quality Index (DLQI) was 16, she had a Psoriasis Area and Severity Index (PASI) score of 18 and a Psoriasis Epidemiology Screening Tool (PEST) score of 4. Nail fungal culture was negative. Plain radiographs of the hands and feet demonstrated a flexion deformity of the left fifth finger distal interphalangeal joint, with otherwise normal bone texture, alignment and joint spaces. The patient was initially treated with potent topical corticosteroids and vitamin D analogues, with little improvement. The patient was commenced on 15 mg subcutaneous methotrexate (MTX), with close monitoring of serum and red cell folate given her background of folate deficiency, which was being actively replaced. Within 3 months of starting MTX monotherapy, the patient’s hands had dramatically improved with skin and fingernail changes largely resolved, and an improvement in manual dexterity (DLQI 11, PASI 3, PEST 5). MTX was increased to 20 mg once weekly and the patient was also started on sulfasalazine 500 mg twice daily by her rheumatologist for psoriatic arthritis. ACH is a chronic pustular eruption initially affecting distal phalanges with gradual proximal progression and the potential development of generalized pustular psoriasis. ACH is considered a variant of palmoplantar pustulosis, commonly affecting adult females with localized trauma and infection as possible triggers. Given the rarity of ACH, the evidence base for therapy is limited to case reports and series, with no standardized treatment guidelines. Topical therapies include corticosteroids, calcineurin inhibitors and vitamin D analogues. Local phototherapy and systemic therapy with acitretin, MTX and ciclosporin have been described, with wide-ranging results. In severe cases such as this, patients typically receive biologic therapy, with variable responses reported with tumour necrosis factor-α inhibitors, anti-interleukin (IL)-6 therapy, and anti-IL-12/IL-23 and anti-IL-17 therapy. We present a rare case of severe ACH and psoriasis, treated with MTX monotherapy, which was not only clinically effective but also cost-effective.
CPC04 A rare rupioid rash
Authors: Nicola Watson, Fraser Charlton, Siobhan Muthiah
Journal: British Journal of Dermatology (2023)

Abstract A 59-year-old man was referred to an urgent skin cancer dermatology clinic with a 4-month history of multiple skin lesions on his trunk, arms and face. The lesions were painful, increasing in size, bleeding and oozing serous fluid. The patient reported being otherwise systemically well, with a history of mild eczema and a background of high alcohol intake. On examination, he had a striking rash with numerous large rupioid plaques with thick crusting and surrounding erythema on the trunk and limbs. Smaller plaques were seen on the face and neck. An infective aetiology was favoured with an initial differential diagnosis of ecthyma or atypical mycobacterial infection. A biopsy was taken, as well as screening blood tests. Treponemal antibodies were detected; rapid plasma reagin was reactive (1 : 32), as was Serodia Treponema pallidum particle agglutination test (1 : 1280), suggesting active syphilis infection. His biopsy demonstrated granulomatous inflammation, associated with neutrophils, plasma cells and increased mucin deposition. Immunohistochemical staining for T. pallidum confirmed corkscrew-like organisms within the basal epidermis and upper dermis, consistent with secondary syphilis; screening for concurrent HIV infection was negative. The patient was referred to a local genitourinary clinic for treatment with benzylpenicillin and for full sexual health screening. The word ‘rupioid’ describes oyster or limpet shell-shaped thick keratotic lesions and is derived from the Greek word rhupos, meaning ‘filth’. Differential causes for rupioid lesions include cutaneous T-cell lymphoma, psoriasis, scabies and syphilis. Rupioid syphilis is also termed ‘malignant syphilis’ or ‘Lues maligna’, describing well-demarcated plaques with thick, lamellate and adherent crusts. It is most frequently encountered in HIV-positive patients; in HIV-negative patients, the associated comorbidities are diabetes, alcoholism, drug abuse, psoriasis and hepatitis. Typically, there is rapid clinical improvement once antibiotic treatment is administered, but episodes of Jarisch Herxheimer reaction are reported. Syphilis diagnoses have tripled over the last 10 years, with cases in the heterosexual population rising most rapidly. Dermatologists have a pivotal role to play in diagnosing primary and secondary syphilis, thereby preventing the long-term sequelae of tertiary syphilis and controlling the rising prevalence of the disease in the general population. This case highlights a striking and rare manifestation of secondary syphilis which, once seen, will not be forgotten.
PA13 Unilateral facial flushing in a 3-year-old girl
Authors: Patrick Bryan, Manju Kalavala
Journal: British Journal of Dermatology (2023)

Abstract A 3-year-old girl presented with an 18-month history of left-sided facial erythema involving her left cheek. This occurred within seconds to minutes after eating food and lasted between 5 and 20 min before complete spontaneous resolution without any associated symptoms. The flushing was not confined to a particular food type. She was born at 37 weeks via forceps-assisted delivery, which had resulted in a small laceration to her left upper cheek. She had no significant past medical history and was not on any medications. Her twin sister did not suffer from the same phenomenon. Examination revealed no abnormalities to her facial skin. Ingestion of a chocolate bar provoked immediate subtle erythema extending from her left preauricular skin to her left mid-cheek. Overlying skin texture and temperature was unchanged, and there was no associated hyperhidrosis. Examination of the cranial nerves was unremarkable at baseline and after provocation. The erythema completely resolved after 5 min. This little girl had Frey syndrome (FS) secondary to traumatic forceps-assisted delivery at birth. Frey syndrome typically consists of gustatory hyperhidrosis and flushing in response to chewing or the smell, taste or thought of food in the auriculotemporal distribution. It is due to aberrant regeneration of parasympathetic fibres instead of sympathetic fibres along the auricolotemporal branch of the mandibular nerve following trauma or infection to the parotid gland (O’Neill JP. Lucja Frey—historical relevance and syndrome review. Surgeon 2008; 6:178–81). Instead of causing the production of saliva in response to food, the aberrant fibres cause flushing and hyperhidrosis. In adults, FS is associated with previous surgery to the parotid gland. There are case reports of it arising as a consequence of forceps-assisted delivery in infants. One study reported eight cases of FS in infants in response to a food stimulus. Six of the cases had a history of forceps-assisted delivery. None of the infants experienced any associated hyperhidrosis. It was concluded that FS arose from trauma to the parotid gland following forceps-assisted delivery at birth. All cases resolved spontaneously without treatment (Dizon MV. Localized facial flushing in infancy. Auriculotemporal nerve (Frey) syndrome. Arch Dermatol 1997; 133:1143–5). The FS is often erroneously attributed to a food allergy. A thorough history for previous trauma to the parotid region or forceps-assisted delivery is recommended in infants with unilateral facial flushing. As FS runs a benign, self-limiting course in children, our patient was reassured and discharged without treatment.
CPC02 Delayed widespread lichenoid drug reaction with radioisotopic response in a patient treated with nivolumab
Authors: Sarah Fleming, Nicholas Kruseman Aretz, Helen Barrett, Marina O’Kane
Journal: British Journal of Dermatology (2023)

Abstract The introduction of immune checkpoint inhibitors for the treatment of a wide variety of malignancies has led to a rise in cutaneous immune-related adverse events (irAEs), including autoimmune and autoinflammatory skin conditions, which typically present within the first 16 weeks of treatment—on average, 3.6 weeks after drug initiation. Cutaneous irAEs occur in approximately 8.7% of patients receiving antiprogrammed cell death type 1 therapy (PD-1). Nivolumab is an antibody against PD-1 widely used for various cancers. As the application of these therapies expands, understanding of their adverse cutaneous effects is essential. We present a 76-year-old woman with metastatic renal cell carcinoma, who developed a widespread pruritic eruption 18 months after commencing nivolumab. Examination revealed a papular and vesicular rash affecting the arms, legs, anterior chest, face, hands and feet. There was a confluent well-demarcated rectangular area of grouped papules on the right side of her back; this site had been treated with radiotherapy for localized rib metastases 1 month prior to onset of rash. There was no mucosal involvement and no systemic symptoms. Three skin biopsies were taken, which showed vacuolar alteration of the basal layer and a band-like inflammatory cell infiltrate at the dermoepidermal junction, with focal areas of subepidermal separation. Direct immunofluorescence was negative, and skin swabs were negative for bacterial and viral infection. A diagnosis of delayed bullous lichenoid drug reaction secondary to nivolumab was made. The area involving the previous radiotherapy field was considered to be a radioisotopic response rather than a radiation recall response as she was already on nivolumab when it occurred. She discontinued nivolumab and commenced oral prednisolone and her skin settled over 5 weeks. Lichenoid dermatitis is a known adverse reaction associated with PD-1 therapy, with improved survival outcomes noted in patients with lichenoid irAEs on PD-1 therapy. Typically, it occurs within 16 weeks, with a documented range of 1–266 days. This patient developed a delayed lichenoid eruption at approximately 550 days, with concurrent radioisotopic response at a previous radiotherapy site. Radiotherapy-induced lichen planus is rare, with only one case report documenting involvement outside the irradiated field. We found no previous reports of nivolumab causing lichenoid drug eruption after such a protracted period. This case adds to the growing literature around PD-1 inhibitor-associated cutaneous eruptions.
Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy
Authors: Guy Hindley, Alexey A. Shadrin, Dennis van der Meer, Nadine Parker, Weiqiu Cheng, Kevin S. O’Connell, Shahram Bahrami, Aihua Lin, Naz Karadag, Børge Holen, Thomas Bjella, Ian J. Deary, Gail Davies, W. David Hill, Jan Bressler, Sudha Seshadri, Chun Chieh Fan, Torill Ueland, Srdjan Djurovic, Olav B. Smeland, Oleksandr Frei, Anders M. Dale, Ole A. Andreassen
Journal: Nature Human Behaviour (2023)

Personality and cognitive function are heritable mental traits whose genetic foundations may be distributed across interconnected brain functions. Previous studies have typically treated these complex mental traits as distinct constructs. We applied the 'pleiotropy-informed' multivariate omnibus statistical test to genome-wide association studies of 35 measures of neuroticism and cognitive function from the UK Biobank (n = 336,993). We identified 431 significantly associated genetic loci with evidence of abundant shared genetic associations, across personality and cognitive function domains. Functional characterization implicated genes with significant tissue-specific expression in all tested brain tissues and brain-specific gene sets. We conditioned independent genome-wide association studies of the Big 5 personality traits and cognitive function on our multivariate findings, boosting genetic discovery in other personality traits and improving polygenic prediction. These findings advance our understanding of the polygenic architecture of these complex mental traits, indicating a prominence of pleiotropic genetic effects across higher order domains of mental function such as personality and cognitive function. Hindley et al. used multivariate statistical genetics tools to examine the genetic underpinnings of cognitive and personality traits and find they are shared across higher order domains of mental functioning.
002 National clinical audit on the management of Stevens–Johnson syndrome/toxic epidermal necrolysis in adults
Authors: Fiona Tasker, Steven P Smith, Firouz Mustapa, David de Berker
Journal: British Journal of Dermatology (2023)

Abstract UK guidelines for the management of Stevens–Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) in adults, published by the British Association of Dermatologists (BAD) in 2016, outline a set of audit standards (Creamer D, Walsh SA, Dziewulski P et al. U.K. guidelines for the management of Stevens–Johnson syndrome/toxic epidermal necrolysis in adults 2016. Br J Dermatol 2016; 174:1194–227). Our aim was to audit the current management of SJS/TEN in adults against audit standards in the BAD guidelines. BAD members were invited to submit data on five consecutive adults with SJS/TEN per department over an 8-week period in 2022. All data were obtained from respondents using a Microsoft Excel spreadsheet proforma returned to the BAD by email. No patient-identifiable data were requested. Initial data extraction was conducted using a novel and reproducible program written in the R statistical language (V3.7 and the readxl, ggplot2 and ggthemes packages). The data analysis was also performed using Microsoft Excel. Thirty-nine (29%) dermatology centres in the UK participated and data for 147 adults with SJS/TEN were collected. Within 24 h of a diagnosis being made or suspected, the following were documented: Severity-of-Illness Score for TEN (SCORTEN) for 52% (n = 76/147) of submitted cases, list of medications for 77% (n = 113) and timelines for commencement/alterations of medications for 71% (n = 104). Initial assessment was of the eyes (by an ophthalmologist) for 48% (n = 71) of cases, the mouth in 88% (n = 130), the genital skin in 70% (n = 103) and the urinary tract in 63% (n = 93). In the first 10 days after a suspected or confirmed diagnosis of SJS/TEN, daily assessments of the mouth were documented in 18% (n = 26) of cases, the eyes in 8% (n = 12) and the urinary tract and genital skin in 10% (n = 14). Documentation regarding advice on (i) avoidance of the culprit drug was present for 58% (n = 76/130) of cases and (ii) request for a medic alert bracelet/amulet in 6% (n = 9/147). In adults with SJS/TEN, drug causality assessment was documented adequately. Initial assessment of the mouth, eyes, urinary tract and genital skin was good to fair; however, daily assessments were poor. Other audit standards that require improving include documentation of SCORTEN and advice to avoid the culprit drug and request a medic alert bracelet/amulet. In adults with SJS/TEN, there are multiple points in the assessment pathway that require careful documentation and regular review. These are a challenge for many clinical inpatient environments. Care within a burns unit or similar may not be possible for all. This audit suggests that some form of assessment and clinical review checklist might enable colleagues to maintain standards outlined in the guideline. Among these, use of SCORTEN, advice to avoid the culprit drug and requests for a Medic Alert bracelet/amulet are key.
003 Utility of plucked hair direct immunofluorescence as a possible replacement for conventional skin biopsy direct immunofluorescence in immunological activity monitoring and prediction of relapse in pemphigus
Authors: Kittu Malhi, Dipankar De, Debajyoti Chatterjee, Sanjeev Handa, Rahul Mahajan
Journal: British Journal of Dermatology (2023)

Abstract Pemphigus vulgaris (PV) is a potentially lethal chronically relapsing autoimmune bullous disorder with intraepithelial lesions affecting the skin and mucous membranes. The prediction of clinical relapse has been studied with conventional skin biopsy and plucked hair direct immunofluorescence (DIF; Daneshpazhooh M, Naraghi ZS, Ramezani A et al. Direct immunofluorescence of plucked hair for evaluation of immunologic remission in PV. J Am Acad Dermatol 2011; 65:173–7) which can be of use in timing treatment withdrawal and helping with better management. The aims of our study were to determine the association of plucked hair root DIF positivity status at baseline with clinical relapse within the study duration, and to determine the correlation between skin biopsy and plucked hair DIF. Seventy-eight consecutive patients diagnosed with PV in clinical remission on therapy, on minimal therapy or off therapy, were included after obtaining informed consent. Three-monthly follow-up was carried out for 12 months. Immunological monitoring with plucked hair DIF was done at baseline and repeated every 3 months for 1 year or a relapse was experienced, whichever occurred earlier. Conventional skin biopsy DIF was performed at baseline, at 3 months and at the time of relapse. In patients receiving adjuvant therapy during their present remission episode, discontinuation of therapy was done at inclusion, at 3 months and at 6 months, and occurrence of relapse in relation to the time point of discontinuation was assessed. Of 78 patients, 22 had disease relapse and 56 remained in complete remission. Clinical relapse during the study duration was significantly more frequent in patients who had higher mean Autoimmune Bullous Skin Disorder Intensity Score during the preceding active disease episode (P = 0.033), pruritus during the present clinical remission episode (P = 0.007) and early discontinuation (within 3 months of study inclusion) of concomitant adjuvant therapy (P = 0.007). Immunological parameters associated with clinical relapse were baseline IgG (P = 0.005) and C3 positivity (P = 0.047) in plucked hair, greater intensity of IgG and C3 positivity at baseline in plucked hair (IgG, P = 0.002; C3, P = 0.033) and skin biopsy specimens (IgG, P = 0.004; C3, P = 0.0.002), and positive hair DIF at the time of adjuvant therapy withdrawal (P = 0.017). Plucked hair DIF is a reliable technique to assess immunological remission in patients with PV who are in clinical remission and helps to guide treatment according to immunological remission status.